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Items: 1 to 100 of 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(R3366H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
DMD
Deletion
Primary familial hypertrophic cardiomyopathy
GPathogenic
TRIM63
(V89M)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TTN
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 9
GPathogenic
DSP, DSP-AS1
(S32N)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
LDLRAP1
(E109D)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 4
GUncertain significance
APOB
(Q1149R)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
GUncertain significance
LDLR
Deletion
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(E250G +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N237I +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(F487fs +3 more)
Indel
(frameshift variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Single nucleotide variant
(splice acceptor variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Single nucleotide variant
(splice donor variant)
Hypercholesterolemia, familial, 1
GPathogenic
CSNK2B
(A193fs +1 more)
Duplication
(frameshift variant)
Poirier-Bienvenu neurodevelopmental syndrome
GLikely pathogenic
PMS2
Deletion
Mismatch repair cancer syndrome 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+1 more
GConflicting classifications of pathogenicity
NF1
Insertion
(intron variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic
CYP21A2, LOC106780800
(M126T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(M126R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(G117S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
LOC106780800, CYP21A2
(L107V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(L157V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(D150E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(Y145* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(C140Y +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(L137R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(L137V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(E132G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
LOC106780800, CYP21A2
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2
Single nucleotide variant
(3 prime UTR variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(3 prime UTR variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(R349fs +2 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
CYP21A2, LOC106780800
(P348T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(S334G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(D322E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(P298R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(G296S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(C289* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP21A2, LOC106780800
(R266G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(Q255H +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(D243Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP21A2, LOC106780800
(R235P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(A151S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Insertion
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Duplication
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Insertion
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(A90S)
Single nucleotide variant
(missense variant +2 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely benign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
LOC106780800, CYP21A2
(P46R)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R17L)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
NF1
Microsatellite
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
FLNC
(V415M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C1R
(W435R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Indel
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C371W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(W364C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C338R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(Y302C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(V50D +1 more)
Indel
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R, C1RL
(G297D +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic/Likely pathogenic
C1R
(D290G +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
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